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Alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology

Alterations in the frequency of trinucleotide repeat dynamic...

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2013浙江省医学遗传学学术年会

作者： Ying-Ming Zheng Li Li Pei-Pei Pan Fang Le Yi-Yun Lou Kai Yan Le-Jun Li Li-Ya Wang Shu-Yuan Liu Xin-Yun Yang Min-Hao Hu Song-Chang Chen Chen-Ming Xu Fan Jin Department of Reproductive Endocrinology Women's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive Genetics National Ministry of Education(Zhejiang University)Women's Reproductive Healthy Laboratory of Zhejiang Province

Background:This study investigates possible changes in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology(ART) in comparison with matched controls from spontaneous pregnancies. Methods:A prospective clinical observational study was performed on two hundred and forty-six families recruited from the in vitro fertilisation centre at a tertiary -care,university -affiliated,teaching hospital. Parental,peripheral and umbilical cord blood samples were collected and the trinucleotide repeat dynamic mutation genes of ATNl,AR,ATXNl,ATXN3,Huntington,DMPK and FMR-1 were investigated between *** frequencies and sizes of the mutational repeats of intergenerational instability were measured. Results:A total of 2,466 transmissions were identified in ART offspring,with 2.11%(n=52/2,466) of alleles being unstable upon *** the control group,the frequency of dynamic mutation was 0.77% (n=10/l,300).Statistical significance was found between the ART group and the control group(P mutational repeats,the rates of expansion or the rates of contraction among the three groups(P>0.05).The repeat copy numbers of examined genes in all parents and their babies were found to be within the normal ranges. Conclusions:Our results illustrated that more significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through *** studies determining the factors that influence instability of genome in ART procedure are urgently needed.

关键词： assisted reproductive technology offspring dynamic mutation trinucleotide repeat

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Significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology

Significant alterations in the frequency of trinucleotide re...

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第十二次全国医学遗传学学术会议

作者： Ying-Ming Zheng Li Li Kai Yan Song-Chang Chen Chen-Ming Xu Fan Jin Department of Reproductive Endocrinology Women's HospitalZhejiang University School of Medicine Key Laboratory of Reproductive Genetics National Ministry of Education(Zhejiang University)Women's Reproductive Healthy Laboratory of Zhejiang Province

Background This study investigates possible changes in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through assisted reproductive technology(ART) in comparison with matched controls from spontaneous *** A prospective clinical observational study was performed on two hundred and forty-six families recruited from the in vitro fertilisation centre at a tertiary-care,university-affiliated,teaching ***,peripheral and umbilical cord blood samples were collected and the trinucleotide repeat dynamic mutation genes of ATN1,AR,ATXN1,ATXN3,Huntington,DMPK and FMR-1 were investigated between *** frequencies and sizes of the mutational repeats of intergenerational instability were *** A total of 2,466 transmissions were identified in ART offspring,with 2.11%(n=52/2,466) of alleles being unstable upon transmission. In the control group,the frequency of dynamic mutation was 0.77%(n=10/1,300).Stati mutational repeats,the rates of expansion or the rates of contraction among the three groups(P>0.05).The repeat copy numbers of examined genes in all parents and their babies were found to be within the normal *** Our results illustrated that more significant alterations in the frequency of trinucleotide repeat dynamic mutations in offspring conceived through *** studies determining the factors that influence instability of genome in ART procedure are urgently needed.

关键词： assisted reproductive technology offspring dynamic mutation trinucleotide repeat

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